Varaico: Literature-Extracted Genetic Variants

Gene:OTOGL
Variant:p.T2156N
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OTOGL

NM_001378609.3:p.T2156N

Associated Papers

Spectrum and Frequencies of Genes for Inherited Hearing Loss in Southwestern Chinese Families.

Xiao Y et al.

Genetic Testing and Molecular Biomarkers, 2025

Prevalence and Clinical Characteristics of OTOGL-Associated Hearing Loss Identified in a Cohort of 7065 Japanese Patients with Hearing Loss.

Maekawa K et al.

Genes, 2025

Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.

Liu S et al.

Genome Medicine, 2023

38111038 (PubMed )
Supplement: 13073_2023_1271_MOESM1_ESM.xlsx › Table_S5

Case Report: A Novel Mutation Identified in CHST14 Gene in a Fetus With Structural Abnormalities.

Zhou YY et al.

Frontiers in Genetics, 2022

35464846 (PubMed )
Supplement: Table1.xlsx › DX1515_20D2319547R

Identification of Genetic Predisposition in Noncirrhotic Portal Hypertension Patients With Multiple Renal Cysts by Integrated Analysis of Whole-Genome and Single-Cell RNA Sequencing.

Wu Y et al.

Frontiers in Genetics, 2021

34868264 (PubMed )
Supplement: Table2.XLSX › Sheet1

Novel biallelic OTOGL mutations in a Chinese family with moderate non-syndromic sensorineural hearing loss.

Gu X et al.

International Journal of Pediatric Otorhinolaryngology, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."